A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280297



Internal ID22378609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15592537..15592677hg38UCSC Ensembl
chr3:15634044..15634184hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5883n152
Supporting Variantsnssv14409911
SamplesNA19240
Known GenesHACL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3280297
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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